Whole exome sequencing reveals novel COL4A3 and COL4A4mutations and resolves diagnosis in Chinese families with kidney disease
Author:
Publisher
Springer Science and Business Media LLC
Subject
Nephrology
Link
http://link.springer.com/content/pdf/10.1186/1471-2369-15-175.pdf
Reference28 articles.
1. Deltas C, Pierides A, Voskarides K: Molecular genetics of familial hematuric diseases. Nephrol Dial Transplant. 2013, 28: 2946-2960. 10.1093/ndt/gft253.
2. Pierides A, Voskarides K, Athanasiou Y, Ioannou K, Damianou L, Arsali M, Zavros M, Pierides M, Vargemezis V, Patsias C, Zouvani I, Elia A, Kyriacou K, Deltas C: Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/ COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidney disease from focal segmental glomerulosclerosis. Nephrol Dial Transplant. 2009, 24: 2721-2729. 10.1093/ndt/gfp158.
3. Savige J, Ars E, Cotton RG, Crockett D, Dagher H, Deltas C, Ding J, Flinter F, Pont-Kingdon G, Smaoui N, Torra R, Storey H, The International Alport Mutation Consortium: DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome. Pediatr Nephrol. 2014, 29: 971-977. 10.1007/s00467-013-2486-8.
4. Savige J, Gregory M, Gross O, Kashtan C, Ding J, Flinter F: Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy. J Am Soc Nephrol. 2013, 24: 364-375. 10.1681/ASN.2012020148.
5. Longo I, Porcedda P, Mari F, Giachino D, Meloni I, Deplano C, Brusco A, Bosio M, Massella L, Lavoratti G, Roccatello D, Frascá G, Mazzucco G, Muda AO, Conti M, Fasciolo F, Arrondel C, Heidet L, Renieri A, De Marchi M: COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome. Kidney Int. 2002, 61: 1947-1956. 10.1046/j.1523-1755.2002.00379.x.
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1. Case report: A novel compound heterozygous variant in the COL4A3 gene was identified in a patient with autosomal recessive Alport syndrome;Frontiers in Genetics;2024-07-12
2. Collagen IV and Podocyte-Related Gene Variants in Patients with Concurrent IgA Nephropathy and Thin Basement Membrane Nephropathy;Nephron;2022-11-08
3. New Insights into Renal Failure in a Cohort of 317 Patients with Autosomal Dominant Forms of Alport Syndrome: Report of Two Novel Heterozygous Mutations in COL4A3;Journal of Clinical Medicine;2022-08-19
4. Genetic Disorders of the Glomerular Basement Membrane;Primer on Nephrology;2022
5. A disease-causing variant of COL4A5 in a Chinese family with Alport syndrome: a case series;BMC Nephrology;2021-11-13
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